Variant report

Variant	nsv984066
Chromosome Location	chr15:45847550-45849255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr15:45848437-45848748	GM12878	blood:	n/a	n/a
2	CHD2	chr15:45848464-45848760	GM12878	blood:	n/a	n/a
3	EP300	chr15:45848438-45848757	GM12878	blood:	n/a	n/a
4	EP300	chr15:45848529-45848708	GM12878	blood:	n/a	n/a
5	EP300	chr15:45848327-45848774	GM12878	blood:	n/a	n/a
6	SPI1	chr15:45848268-45849108	GM12878	blood:	n/a	n/a
7	SPI1	chr15:45848341-45848822	GM12891	blood:	n/a	n/a
8	SPI1	chr15:45848407-45848793	GM12878	blood:	n/a	n/a
9	SPI1	chr15:45848434-45848786	GM12891	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45842433..45843997-chr15:45848570..45850366,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf48-1	chr15:45847688-45848928	NONHSAT042265
2	lnc-C15orf48-1	chr15:45847671-45848098	NONHSAT042270
3	lnc-C15orf48-1	chr15:45847671-45848300	NONHSAT042267
4	lnc-C15orf48-1	chr15:45847688-45848300	NONHSAT042266
5	lnc-C15orf48-1	chr15:45847671-45848928	NONHSAT042264
6	lnc-C15orf48-1	chr15:45847680-45848169	NONHSAT042272

No data

Variant related genes	Relation type
HMGN2P46	TF binding region
ENSG00000259681	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371003928	chr15:45847729-45847730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs150737821	chr15:45847748-45847749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs558283558	chr15:45847785-45847786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537876887	chr15:45847787-45847788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181267621	chr15:45847788-45847789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs367923687	chr15:45847794-45847795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs370261780	chr15:45847802-45847803	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368608729	chr15:45847803-45847804	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs543761748	chr15:45847806-45847807	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs372742223	chr15:45847813-45847814	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs368369764	chr15:45847814-45847815	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs147816560	chr15:45847819-45847820	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs183934743	chr15:45847824-45847825	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs139112818	chr15:45847828-45847829	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs143982485	chr15:45847839-45847840	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs559455607	chr15:45847851-45847852	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs8042811	chr15:45847921-45847922	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs551725560	chr15:45847934-45847935	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs370049856	chr15:45847939-45847940	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs139971473	chr15:45847960-45847961	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565687291	chr15:45847971-45847972	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs565141366	chr15:45847975-45847976	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs369397044	chr15:45847976-45847977	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs530795698	chr15:45847985-45847986	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs149729248	chr15:45847990-45847991	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs372593860	chr15:45847991-45847992	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530631212	chr15:45848014-45848015	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145569115	chr15:45848023-45848024	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs148863468	chr15:45848093-45848094	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs143720304	chr15:45848101-45848102	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs188225754	chr15:45848124-45848125	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs147684411	chr15:45848134-45848135	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs142365057	chr15:45848136-45848137	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs376148744	chr15:45848142-45848143	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs12440560	chr15:45848153-45848154	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs112508795	chr15:45848158-45848159	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs566538255	chr15:45848195-45848196	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs372861121	chr15:45848231-45848232	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs538759527	chr15:45848275-45848276	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs182226902	chr15:45848290-45848291	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs56383432	chr15:45848323-45848324	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs376676510	chr15:45848330-45848331	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs545043298	chr15:45848360-45848361	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs376517831	chr15:45848366-45848367	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs575140259	chr15:45848437-45848438	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs74494841	chr15:45848509-45848510	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs187245296	chr15:45848634-45848635	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs191619025	chr15:45848676-45848677	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs542780374	chr15:45848717-45848718	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs559545342	chr15:45848740-45848741	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45847800-45849200	Enhancers	GM12878-XiMat	blood
2	chr15:45848000-45849200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:45848200-45848600	Enhancers	Primary B cells from cord blood	blood
4	chr15:45848200-45849200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr15:45848400-45849200	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:45849200-45850200	Weak transcription	Primary B cells from peripheral blood	blood

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